Masashi Uchida

Familial Del(18p) syndrome.

We report on sibs and their mother, all with del(18p). The propositus, an 11-month-old, had developmental delay, round face, hypertelorism, large ears, broad nasal bridge, upturned nostrils, micrognathia, a high palate, redundant skin around the neck, micropenis, and cryptorchidism. The elder sister, a two and 7/12-year-old, had round face, hypertelorism, broad nasal bridge, narrow and high palate, redundant skin around the neck, short fingers, and hypoplastic genitalia. Their mother had microcephaly, hypertelorism, prominent columella, broad nasal bridge, wide mouth, high palate, malaligned teeth, and clinodactyly of the fifth fingers. Serial photographs of the mother showed that the characteristic round face in infancy changed to long face with age. The present report suggests that the mother with del(18p) may be fertile, and proper genetic counseling and long follow-up is necessary for the patient with del(18p) syndrome.

Bartonella Infection Associated with Systemic Juvenile Rheumatoid Arthritis

A 4-year-old girl with systemic juvenile rheumatoid arthritis had Bartonella infection diagnosed serologically. This case suggested that Bartonella (most probably Bartonella henselae) infection may in part be responsible for the development of systemic juvenile rheumatoid arthritis.

Coronary artery lesions and the increasing incidence of Kawasaki disease resistant to initial immunoglobulin

BACKGROUNDS Kawasaki disease (KD) is a systemic vasculitis of childhood involving coronary arteries. Treatment for intractable cases at a higher risk of cardiac sequelae remains controversial. METHODS Clinical outcomes of KD patients diagnosed in Yamaguchi prefecture, Japan between 2003 and 2014 were analyzed using the medical records from all 14 hospitals covering the prefecture. The study included 1487 patients (male:female, 873:614; median age at diagnosis, 24months). RESULTS The proportion of initial intravenous immunoglobulin (IVIG)-resistant patients increased from 7% to 23% during this decade, although no patients died. Twenty-four patients developed coronary artery lesions (CALs) over one month after the KD onset. The incidence of CAL in patients who received corticosteroid during the disease course (10/37; 27.0%) was higher than that in those who did not (14/1450; 0.97%, p=2.0×10(-35)). Nine patients who responded to initial IVIG plus corticosteroids had no CAL. Conversely, IVIG-resistant patients with alternate corticosteroid therapy more frequently developed CAL than those without it (10/28; 35.7% vs. 5/194; 2.6%, p=8.9×10(-10)). Multivariate analyses indicated corticosteroid therapy (p<0.0001), hyperbilirubinemia (p=0.0010), and a longer number of days before treatment (p=0.0005) as risk factors associated with CAL over a month after onset. The odds ratio of corticosteroid use increased from 18.3 to 43.5 if the cases were limited to initial IVIG non-responders and corticosteroid free-IVIG responders. CONCLUSIONS IVIG-failure has recently increased. The incidence of CAL increased in intractable cases with prolonged corticosteroid use. Corticosteroid may not be alternate choice for IVIG-failure to reduce the risk of cardiac sequelae.

Analysis of intracranial pressure pulse waveform and brain capillary morphology in type 2 diabetes mellitus rats.

Diabetes mellitus in neurosurgical patients is known to be a disease with high risks and severe outcomes. However, the mechanism by which diabetes mellitus induces dysfunction of brain tissue is not well known. The hypothesis of this study was that the damage to brain microvasculature in diabetes mellitus results in impaired compliance of the brain. Pathological changes associated with type II diabetes were investigated using a rat model. Pathophysiological changes in diabetic brain tissue were also investigated to confirm cerebral compliance by analyzing intracranial pressure waveforms. Pathologic findings revealed thickening of the basement membrane and fibrous collagen infiltration into the inner basement membrane of the brain microvasculature in diabetes mellitus. Analysis of intracranial pressure waveforms revealed that the P2 portion increased in diabetic rats compared to the control and was increased further with the increase in intracranial pressure. Analysis of the differential pressure curve, with respect to time, demonstrated that intracranial elasticity showed a concomitant increase. Pathologic findings and intracranial pressure waveforms were consistent with changes in brain microvasculature in diabetes mellitus. The increase of elasticity of brain tissue in diabetes mellitus may exacerbate the damage of intracranial disease.

Male to male transmission of supernumerary nipples

We report on a father and his son with supernumerary nipples. No male-to-male transmission has previously been described with this trait. This observation confirms that this trait is inherited in an autosomal dominant fashion.

A case of intracerebral metastasis in osteosarcoma without active pulmonary metastasis.

Intracerebral metastasis in osteosarcoma is extremely rare. A 14-year-old girl who had previously been operated upon for osteosarcoma of the femur presented with seizures and left hemiparesis. A right parietal lesion with calcification and brain oedema was found. After resection of the mass, pathology revealed an osteosarcoma metastasis.

Percutaneous transluminal angioplasty in a patient with internal carotid artery stenosis following gamma knife radiosurgery for recurrent pituitary adenoma.

Background: Intracranial vascular complications following radiosurgery are extremely rare. Case Description: We report a case of stenosis in the internal carotid artery 5 years after gamma knife radiosurgery for a recurrent pituitary adenoma. Percutaneous transluminal angioplasty was performed successfully with anatomical and functional improvement. Conclusion: These results suggested the importance of monitoring for arterial stenosis in the long-term follow-up. Moreover, this is the first case of endovascular treatment as an effective therapy for intracranial arterial stenosis due to radiotherapy.

Cerebral hyperperfusion syndrome following the excision of a mycotic aneurysm with superficial temporal artery-to-middle cerebral artery bypass: case report.

The authors report a rare case of cerebral hyperperfusion syndrome (HPS) following the excision of a mycotic aneurysm with superficial temporal artery-to-middle cerebral artery (STA-MCA) bypass. A 74-year-old woman with infective endocarditis presented with progressive cerebral infarction and subarachnoid hemorrhage due to a mycotic aneurysm, which was excised with a STA-MCA bypass. Postoperatively, the patient developed HPS that was considered to be exacerbated by a previous ischemic event. Therefore, cerebral hemodynamics should be evaluated before bypass surgery to prevent subsequent hyperperfusion.

Simple transposition technique for microvascular decompression using an expanded polytetrafluoroethylene "belt": technical note.

Microvascular decompression (MVD) is a standard surgical procedure for treating vascular compression syndromes. There are two basic ways to perform MVD: interposition using a prosthesis and transposition. With the transposition technique, adhesions and granuloma around the decompression site are avoided, but the required operation is more complex than that for the interposition method. We describe a simple, quick MVD transposition procedure that uses a small “belt” cut from a sheet of 0.3-mm-thick expanded polytetrafluoroethylene membrane. The belt has a hole at the wide end and the other end tapered to a point. The belt is encircled around offending vessels by inserting the pointed end into the hole. The pointed end is then passed through a dural tunnel over the posterior wall of the petrous bone and is tied two or three times. This method avoids the risks involved in handling a surgical needle close to the cranial nerves and vessels.

Acute phase endovascular intervention on a pseudoaneurysm formed due to rupture of an anterior communicating artery aneurysm

A 79-year-old woman presented with a subarachnoid hemorrhage. Angiography revealed pseudoaneurysm formation due to rupture of a true saccular anterior communicating artery aneurysm. Coil embolization, limited to the true aneurysm, was performed successfully with a favorable clinical outcome. This procedure can be considered as an alternative treatment option for similar aneurysms in cases where surgical clipping is contraindicated.